Marijke N. Zonneveld

发表

Next-generation genetic testing for retinitis pigmentosa

Christian Gilissen, Alexander Hoischen, Michael F. Buckley, 2012, Human mutation.

Molecular and phenotypic analysis of a family with autosomal recessive cone-rod dystrophy and Stargardt disease.

F. Cremers, S. Yzer, L. I. van den Born, 2007, Molecular vision.

Clinical and genetic heterogeneity in multifocal vitelliform dystrophy.

B. J. Klevering, A. D. den Hollander, F. Cremers, 2007, Archives of ophthalmology.

A homozygous frameshift mutation in LRAT causes retinitis punctata albescens.

F. Riemslag, A. D. den Hollander, J. Keunen, 2012, Ophthalmology.

Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis.

T. Meitinger, T. Strom, A. D. den Hollander, 2006, American journal of human genetics.

Next Generation Genetic Testing for Retinitis Pigmentosa

B. J. Klevering, A. Hoischen, J. Veltman, 2013 .

Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa.

B. J. Klevering, J. Corbo, R. Bose, 2011, American journal of human genetics.

Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis.

J. Cruysberg, T. de Ravel, A. D. den Hollander, 2006, Investigative ophthalmology & visual science.

CRB1 mutation spectrum in inherited retinal dystrophies

Jason J. Davis, A. D. den Hollander, R. Roepman, 2004, Human mutation.

Characterization of the Crumbs homolog 2 (CRB2) gene and analysis of its role in retinitis pigmentosa and Leber congenital amaurosis.

A. D. den Hollander, R. Roepman, P. Rashbass, 2005, Molecular vision.

Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis

T. Strom, J. Veltman, R. Roepman, 2007, Nature Genetics.

Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping

T. Strom, A. D. den Hollander, F. Cremers, 2011, Molecular vision.

High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population.

B. J. Klevering, J. Hehir-Kwa, T. Strom, 2011, Investigative ophthalmology & visual science.

Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone–rod dystrophy and retinitis pigmentosa

B. J. Klevering, F. Cremers, C. Hoyng, 2004, European Journal of Human Genetics.

Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.

J. Hehir-Kwa, T. Meitinger, T. Strom, 2007, Investigative ophthalmology & visual science.

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

Colin A. Johnson, Michael A. Beer, R. Gibbs, 2009, Nature Genetics.

Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel‐Gruber syndrome

Carsten Bergmann, Peter Nürnberg, Klaus Zerres, 2008, Human mutation.

Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population.

I. Chowers, T. Strom, A. D. den Hollander, 2010, Investigative ophthalmology & visual science.

Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations.

J. Veltman, A. D. den Hollander, F. Cremers, 2010, Investigative ophthalmology & visual science.

Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa.

B. J. Klevering, T. Strom, A. D. den Hollander, 2008, American journal of human genetics.

Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype.

B. J. Klevering, A. D. den Hollander, F. Cremers, 2010, Ophthalmology.

Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa.

B. J. Klevering, T. Strom, A. D. den Hollander, 2008, American journal of human genetics.

Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population.

I. Chowers, Dikla Bandah-Rozenfeld, D. Sharon, 2010, Investigative ophthalmology & visual science.